Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
About this item
Full title
Author / Creator
Lipstein, Noa , Verhoeven-Duif, Nanda M , Michelassi, Francesco E , Calloway, Nathaniel , van Hasselt, Peter M , Pienkowska, Katarzyna , van Haaften, Gijs , van Haelst, Mieke M , van Empelen, Ron , Cuppen, Inge , van Teeseling, Heleen C , Evelein, Annemieke M V , Vorstman, Jacob A , Thoms, Sven , Jahn, Olaf , Duran, Karen J , Monroe, Glen R , Ryan, Timothy A , Taschenberger, Holger , Dittman, Jeremy S , Rhee, Jeong-Seop , Visser, Gepke , Jans, Judith J and Brose, Nils
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement diso...
Alternative Titles
Full title
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
Authors, Artists and Contributors
Author / Creator
Verhoeven-Duif, Nanda M
Michelassi, Francesco E
Calloway, Nathaniel
van Hasselt, Peter M
Pienkowska, Katarzyna
van Haaften, Gijs
van Haelst, Mieke M
van Empelen, Ron
Cuppen, Inge
van Teeseling, Heleen C
Evelein, Annemieke M V
Vorstman, Jacob A
Thoms, Sven
Jahn, Olaf
Duran, Karen J
Monroe, Glen R
Ryan, Timothy A
Taschenberger, Holger
Dittman, Jeremy S
Rhee, Jeong-Seop
Visser, Gepke
Jans, Judith J
Brose, Nils
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5330740
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5330740
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI90259
